Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137854544
rs137854544
CTSA
0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05
CUI: C0268233
Disease: GALACTOSIALIDOSIS
GALACTOSIALIDOSIS 		0.800 1.000 3 1991 2014
dbSNP: rs137854544
rs137854544
CTSA
0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.700 1.000 3 1996 2014
dbSNP: rs137854544
rs137854544
CTSA
0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 3 1996 2014
dbSNP: rs137854544
rs137854544
CTSA
0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05
CUI: C4021536
Disease: Mild conductive hearing impairment
Mild conductive hearing impairment 		0.700 1.000 3 1996 2014
dbSNP: rs137854544
rs137854544
CTSA
0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 3 1996 2014
dbSNP: rs137854544
rs137854544
CTSA
0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		0.700 1.000 3 1996 2014
dbSNP: rs137854544
rs137854544
CTSA
0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 1.000 3 1996 2014
dbSNP: rs137854544
rs137854544
CTSA
0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 1.000 3 1996 2014
dbSNP: rs137854544
rs137854544
CTSA
0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 1.000 3 1996 2014
dbSNP: rs137854544
rs137854544
CTSA
0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05
CUI: C4017292
Disease: GALACTOSIALIDOSIS, LATE INFANTILE
GALACTOSIALIDOSIS, LATE INFANTILE 		0.700 0